Associated Papers
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
Okada S et al.
Journal of Clinical Immunology, 2020
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Yamazaki Y et al.
Journal of Immunology (baltimore, Md. : 1950), 2014
Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.
Birnbaum RY et al.
Plos Genetics, 2014
25340400 (PubMed )
Supplement: pgen.1004592.s009.xlsx › TRAF3IP2_exon_2
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